A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665775



Internal ID10079347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12913699..12913829hg38UCSC Ensembl
Outerchr17:12817016..12817146hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715664
Supporting Variants
SamplesSSM029
Known GenesARHGAP44
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6665775
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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